| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282957 |
| Start |
148845572:148845572(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.927G>A |
| AA Mutation |
p.Met309Ile(p.M309I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282957 |
| Start |
148857491:148857491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1016C>A |
| AA Mutation |
p.Ala339Asp(p.A339D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000282957 |
| Start |
148845563:148845563(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.918C>A |
| AA Mutation |
p.Tyr306Ter(p.Y306*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |